View genomic variant #0000001545

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.129281470_129281472del
Published as -
GERP -
Segregation -
DB-ID AIFM1_000001
MSCV MSCV_0001545
dbSNP ID rs387906500
Frequency -
Sources ; clinVar;
Reference 20362274
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AIFM1 00000027 NM_001130847.3 0000001545 +/+ - - c.601_603del p.(Arg201del) - - - -
AIFM1 00000026 NM_004208.3 0000001545 +/+ - - c.601_603del p.(Arg201del) - - - -
AIFM1 00000025 NM_145812.2 0000001545 +/+ - - c.589_591del p.(Arg197del) - - - -
AIFM1 00000024 NM_145813.2 0000001545 +/+ - - c.107-10312_107-10310del p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000490175;
Chromosome X:129281471..129281471
ClinVar Allele ID 415739
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000023.10:g.129281471C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. AIFM1:9131|RAB33A:9363
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 886703882
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None